Canonical Allele Identifier: CA406015470

Gene: BCKDHA

Linked Data

• dbSNP Id: rs757725146
• gnomAD v4: 19-41424531-C-G
• MyVariant Identifiers: chr19:g.41930436C>G (hg19) ; chr19:g.41424531C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424531C>G , CM000681.2:g.41424531C>G	GRCh38
NC_000019.9:g.41930436C>G , CM000681.1:g.41930436C>G	GRCh37
NC_000019.8:g.46622276C>G	NCBI36
NG_013004.1:g.31743C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1261C>G MANE Select	ENSP00000269980.2:p.Arg421Gly
ENST00000269980.6:c.1261C>G	ENSP00000269980.2:p.Arg421Gly
ENST00000457836.6:c.1270C>G	ENSP00000416000.2:p.Arg424Gly
ENST00000540732.3:c.1363C>G	ENSP00000443246.1:p.Arg455Gly
ENST00000544905.1:c.91C>G
ENST00000595085.5:c.922+1834C>G	ENSP00000471150.2:n.922+1834C>G
NM_000709.3:c.1261C>G	NP_000700.1:p.Arg421Gly
NM_001164783.1:c.1258C>G	NP_001158255.1:p.Arg420Gly
NM_000709.4:c.1261C>G MANE Select	NP_000700.1:p.Arg421Gly
NM_001164783.2:c.1258C>G	NP_001158255.1:p.Arg420Gly